Abnormal Frontostriatal Activity During Unexpected Reward Receipt in Depression and Schizophrenia: Relationship to Anhedonia
Segarra, Nuria, Metastasio, Antonio, Ziauddeen, Hisham, Spencer, Jennifer, Reinders, Niels R, Dudas, Robert B, Arrondo, Gonzalo, Robbins, Trevor W, Clark, Luke, Fletcher, Paul C, Murray, Graham K
Published in Neuropsychopharmacology (New York, N.Y.) (01.07.2016)
Published in Neuropsychopharmacology (New York, N.Y.) (01.07.2016)
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Journal Article
A randomized, phase 2 evaluation of the CHK1 inhibitor, LY2603618, administered in combination with pemetrexed and cisplatin in patients with advanced nonsquamous non‐small cell lung cancer
Wehler, Thomas, Thomas, Michael, Schumann, Christian, Bosch-Barrera, Joaquim, Viñolas Segarra, Nuria, Dickgreber, Nicolas J, Dalhoff, Klaus, Sebastian, Martin, Corral Jaime, Jesus, Alonso, Miriam, Hynes, Scott M, Lin, Ji, Hurt, Karla, Bence Lin, Aimee, Calvo, Emiliano, Paz-Ares, Luis
Published in Lung cancer (Amsterdam, Netherlands) (01.06.2017)
Published in Lung cancer (Amsterdam, Netherlands) (01.06.2017)
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Journal Article
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina
Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo
Published in Orphanet journal of rare diseases (20.06.2018)
Published in Orphanet journal of rare diseases (20.06.2018)
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Journal Article
Long-term liver disease in methylmalonic and propionic acidemias
Imbard, Apolline, Garcia Segarra, Nuria, Tardieu, Marine, Broué, Pierre, Bouchereau, Juliette, Pichard, Samia, de Baulny, Hélène Ogier, Slama, Abdelhamid, Mussini, Charlotte, Touati, Guy, Danjoux, Marie, Gaignard, Pauline, Vogel, Hannes, Labarthe, François, Schiff, Manuel, Benoist, Jean-François
Published in Molecular genetics and metabolism (01.04.2018)
Published in Molecular genetics and metabolism (01.04.2018)
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Journal Article
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
García Segarra, Nuria, Gautschi, Ivan, Mittaz-Crettol, Laureane, Kallay Zetchi, Christine, Al-Qusairi, Lama, Van Bemmelen, Miguel Xavier, Maeder, Philippe, Bonafé, Luisa, Schild, Laurent, Roulet-Perez, Eliane
Published in Journal of the neurological sciences (15.07.2014)
Published in Journal of the neurological sciences (15.07.2014)
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Journal Article
Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients
Bacci, Giacomo M., Donati, Maria A., Pasquini, Elisabetta, Munier, Francis, Cavicchi, Catia, Morrone, Amelia, Sodi, Andrea, Murro, Vittoria, Garcia Segarra, Nuria, Defilippi, Claudio, Bussolin, Leonardo, Caputo, Roberto
Published in Acta ophthalmologica (Oxford, England) (01.12.2017)
Published in Acta ophthalmologica (Oxford, England) (01.12.2017)
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Journal Article
Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution
Ivanyuk, Anton, García Segarra, Nuria, Buclin, Thierry, Klein, Andrea, Jacquier, David, Newman, Christopher J., Bloetzer, Clemens
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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Journal Article
Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient
Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean‐Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry
Published in Annals of clinical and translational neurology (01.06.2022)
Published in Annals of clinical and translational neurology (01.06.2022)
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Journal Article
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
Garcia Segarra, Nuria, Mittaz, Laureane, Campos-Xavier, Ana Belinda, Bartels, Cynthia F., Tuysuz, Beyhan, Alanay, Yasemin, Cimaz, Rolando, Cormier-Daire, Valerie, Di Rocco, Maja, Duba, Hans-Christoph, Elcioglu, Nursel H., Forzano, Francesca, Hospach, Toni, Kilic, Esra, Kuemmerle-Deschner, Jasmin B., Mortier, Geert, Mrusek, Sonja, Nampoothiri, Sheela, Obersztyn, Ewa, Pauli, Richard M., Selicorni, Angelo, Tenconi, Romano, Unger, Sheila, Utine, G. Eda, Wright, Michael, Zabel, Bernhard, Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
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Journal Article
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa Ali, García Segarra, Nuria, Geraghty, Michael T., Jåtun, Bjørn Magne, Kalkan Uçar, Sema, Kriewitz, Merten, Rauchenzauner, Markus, Bilić, Karmen, Tournev, Ivailo, Till, Claudia, Sayson, Bryan, Beumer, Daniel, Ye, Cynthia Xin, Zhang, Lin-Hua, Vallance, Hilary, Alkuraya, Fowzan S., van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
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Journal Article
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel
Published in Orphanet journal of rare diseases (14.11.2022)
Published in Orphanet journal of rare diseases (14.11.2022)
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Journal Article
Clinical usefulness of the screen for cognitive impairment in psychiatry (SCIP-S) scale in patients with type I bipolar disorder
Guilera, Georgina, Pino, Oscar, Gómez-Benito, Juana, Rojo, J Emilio, Vieta, Eduard, Tabarés-Seisdedos, Rafael, Segarra, Nuria, Martínez-Arán, Anabel, Franco, Manuel, Cuesta, Manuel J, Crespo-Facorro, Benedicto, Bernardo, Miguel, Purdon, Scot E, Díez, Teresa, Rejas, Javier
Published in Health and quality of life outcomes (01.04.2009)
Published in Health and quality of life outcomes (01.04.2009)
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Journal Article
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
Simon, Marleen, Campos-Xavier, Ana Belinda, Mittaz-Crettol, Lauréane, Valadares, Eugenia Ribeiro, Carvalho, Daniel, Speck-Martins, Carlos Eduardo, Nampoothiri, Sheela, Alanay, Yasemin, Mihci, Ercan, van Bever, Yolande, Garcia-Segarra, Nuria, Cavalcanti, Denise, Mortier, Geert, Bonafé, Luisa, Superti-Furga, Andrea
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
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Journal Article
Angiogenesis inhibitors in the treatment of non-small-cell lung cancer (NSCLC)
Carcereny Costa, Enric, Viñolas Segarra, Núria, Gascón Vilaplana, Pere
Published in Clinical & translational oncology (01.04.2008)
Published in Clinical & translational oncology (01.04.2008)
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Journal Article
Lung cancer diagnosis by trained dogs
Guirao Montes, Ángela, Molins López-Rodó, Laureano, Ramón Rodríguez, Ingrid, Sunyer Dequigiovanni, Gemma, Viñolas Segarra, Núria, Marrades Sicart, Ramón María, Hernández Ferrández, Jorge, Fibla Alfara, Juan José, Agustí García-Navarro, Álvaro
Published in European journal of cardio-thoracic surgery (01.12.2017)
Published in European journal of cardio-thoracic surgery (01.12.2017)
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Journal Article
Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Published in Molecular genetics and metabolism reports (01.06.2015)
Published in Molecular genetics and metabolism reports (01.06.2015)
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Journal Article